A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv608n166



Internal ID22800507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33833271..33857401hg38UCSC Ensembl
chr13:34407408..34431538hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3824131
hg1924131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4227274, nsv4217249
Samples
Known GenesRFC3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv608n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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